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Genetic Labs

Houston, Texas

Genetic Laboratory
Medical Genetics Laboratories
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Medical Genetics Test Details

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Collagen, Type I, Alpha 1/2 Panel by Massively Parallel Sequencing (BCM-MitomeNGSSM)
Test Information: The majority of the collagen that is found in skin, tendon, and bone consists of two COL1A1 peptides and one COL1A2 peptide. Mutations in these two genes are the leading cause of low bone mass, Osteogenesis imperfecta, Ehlers-Danlos syndrome, and Caffey disease.
Test Details
Test Code: 2625
Special Notes: Two nuclear encoded genes, COL1A1 and COL1A2, involved in the formation of collagen are analyzed by the newly developed and clinically validated approach of Massively Parallel Sequencing (MPS) using Next Generation sequence technology. These genes are also included in the Low Bone Mass Panel (#2090) along with 20 other genes involved in low bone mass (ALPL, B4GALT7, COL3A1, COL5A1, COL5A2, CRTAP, FBN1, FKBP10, IFITM5, LEPRE1, PLOD2, PLOD3, PPIB, SERPINF1, SLC34A1, SLC39A13, SLC9A3R1, SP7, TNFRSF11A and TNFRSF11B)

All exons of these 2 genes are examined by NGS. Exonic variants and intronic variants within 20bp of the exon/intron boundary will be reported. This massively parallel sequence analysis (MitomeNGS®) will not detect genomic structural rearrangements (eg. deletions, duplications, and inversions), large insertion mutations (e.g. ALU mediated insertion), and mutations within the promoter or deep intronic regions. Mutations and novel variants are confirmed by Sanger sequencing.

Sequence analysis for COL1A2 can also be ordered separately: (#2635).
Technical Information
Methodology: Targeted Capture followed by Massively Parallel Sequencing
Gene Name: COL1A1, COL1A2
Sample & Shipping Information
Test Requisition: Molecular Diagnostics
Specimen Type: Blood
Requirements: Draw blood in an EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children).
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.

Specimen Type: Purified DNA
Requirements: Send at least 5ug of purified DNA (minimal concentration of 50ng/uL; A260/A280 of ~1.7).
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.

Turn Around Time: 42 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81408 x 1

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